Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 16-02-2010
Symbol PSRP
Location 17q21.31
Name progressive supranuclear palsy
Other name(s) Steele-Richardson-Olszewski syndrome
Corresponding gene MAPT
Other symbol(s) PSNP1
Main clinical features
  • onset in the sixties, characterized by supranuclear vertical gaze palsy, postural instability, predominant frontal cognitive disturbance, erect or opisthotonic posture, spastic or ataxic dysarthria dysphagia, with a fatal outcome with double PHF (paired helical filaments) -tau, neurofibrillar tangles, neuronal and glial tau accumulation in the cortex, basal ganglia, brainstem nuclei and white matter
  • Genetic determination autosomal dominant
    Related entries including supranuclear palsy, progressive atypical and Steele-Richardson-Olszewski syndrome atypical (OMIM : 260540)
    Function/system disorder neurology
    Type disease
    Gene product
    Name microtubule-associated protein tau